Advances in Human Genetics (eBook, PDF)

Volume 18
Redaktion: Harris, Harry; Hirschhorn, Kurt

• Format: PDF

Produktbeschreibung

Zur Zeit liegt uns keine Inhaltsangabe vor.

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Produktdetails

• Verlag: Springer US
• Seitenzahl: 406
• Erscheinungstermin: 6. Dezember 2012
• Englisch
• ISBN-13: 9781461307853
• Artikelnr.: 43987312

Inhaltsangabe

1 The Molecular Basis of HLA-Disease Association.- Function and Nomenclature.- Genomic Organization.- Class II Sequence Polymorphism.- Structural Consideration.- HLA and Disease.- Hybrid Molecules and Transassociation.- Disease-Associated Class II Sequences.- Mechanisms of Class II-Mediated Disease Susceptibility.- References.- 2 Chromosome Instability Syndromes.- Clinical Descriptions.- Cytogenetic Findings.- Heterogeneity and Complementation.- Heterozygote Detection.- Prenatal Diagnosis.- Molecular Considerations.- Conclusion.- References.- 3 Lacticacidemia: Biochemical, Clinical, and Genetic Considerations.- The Biochemical Basis of Lacticacidemia.- Pyruvate Carboxylase Deficiency.- Respiratory Chain Defects.- The Genetics of Lacticacidemia.- References.- 4 A Comprehensive and Critical Assessment of Overgrowth and Overgrowth Syndromes.- Infants of Diabetic Mothers.- Infant Giants.- Beckwith-Wiedemann Syndrome.- Hemihyperplasia (Hemihypertrophy).- Sotos Syndrome.- Nevo Syndrome.- Bannayan-Riley-Ruvalcaba Syndrome.- Weaver Syndrome.- Marshall-Smith Syndrome.- Elejalde Syndrome.- Simpson-Golabi-Behmel Syndrome.- Proteus Syndrome.- Miscellaneous Conditions with Overgrowth.- References.- 5 Genetics of Growth Hormone and Its Disorders.- Human Growth Hormone and Related Hormones.- Human Growth Hormone Gene Cluster.- Genetic Disorders of hGH and hCSH Synthesis or Action.- Recombinant hGH.- Future Studies on hGH and Related Genes.- References.- Addenda.